Friday I had a D&E procedure and terminated my third pregnancy due to fetal abnormalities. We also met with E, our genetic counselor and Dr. T in MFM prior to the procedure to sign paperwork and discuss testing options.
At this point we have three areas we are testing or might be testing:
- We are testing tissue from the fetus; a microarray, same as we did after our second pregnancy. The microarray results from our second pregnancy came back normal, and we already know that The Husband and I have normal karotypes.
- We are doing a workup on me; a full blood count, MTHFR, all folate indicators (I think there were about three different tests they listed to test folate/B12.) Depending on how the folate levels come back we may need to consult with a hematologist to determine why my levels are so low despite being “flooded” with folate (with the 4mg/day.) We are expecting them to come back low but maybe we’ll be surprised. I really don’t remember the names of all the tests they were doing to do, there was a whole list, but I do know they took about 8 vials of blood prior to the procedure.
- We qualify for research study being performed at the Manton Center for Orphan Disease Research at Boston Children’s Hospital. They are newly enrolling couples who have had recurrent loss with abnormalities in their Gene Discovery Core Study. So newly, in fact, that we would be only the fifth couple to even participate. Friday when we met with E to go over all the testing we had a conference call with one of the genetic counselors who works there as a Research Coordinator and they sent over a 13 page Research Consent Form for us to read through. If we decide to participate all they need is blood/saliva samples from us and tissue samples from our three pregnancies which E would facilitate getting to them. They will do exome sequencing, which is the testing that a leading geneticist recommended for us after E consulted with her and sent her our history, but instead of it costing $9,000 and taking five months through a commercial lab it will be free and we may have results a month or two quicker if we participate in the research study. When we spoke to them they said there is typically a 40% chance of finding a genetic mutation that explains the issues. I haven’t read through the Consent Form yet in its entirety, but E recommends waiting to get our microarray results back before making a decision. Her thought is, we don’t want to go through this time intensive testing if the microarray (which will be back much sooner) gives us an obvious explanation. All of this is non-invasive.
So, these are the options that have been presented to us at the moment for trying to find an explanation for all this mess. I feel very empty and “blah” about it. None of this is going to bring my babies back. Even if they find an answer, and can “fix” it or mitigate the risks, do I even want to deal with the possibility of going through this again? Right now I just want to be me again; I want to practice yoga, and start running again, and get on some sort of diet so I can start feeling better about myself. When I’m pregnant I don’t feel like me. I always feel like an alien invaded my body and then it always just ends badly anyway. I want answers for the sake of knowing, and for peace of mind. But I know I might not get answers anyway no matter what kind of testing we do.
Yesterday was our seven year wedding anniversary. It almost seems like an afterthought. Well, it’s not like it was a “big” one. Maybe next year things will be better. No matter how many times I tell myself that I’m not sure I believe it.